Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Ectrodactyly ectodermal dysplasia clefting syndrome"'
Publikováno v:
Journal of International Clinical Dental Research Organization, Vol 14, Iss 2, Pp 156-160 (2022)
Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is a rare congenital anomaly. Infants affected with this syndrome experience feeding difficulties due to the presence of orofacial clefts, which in turn impedes nutrition and affec
Externí odkaz:
https://doaj.org/article/e251ec7879b84c5aa4fcaa6176d6f4be
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Ectrodactyly‐ectodermal dysplasia‐clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly
Externí odkaz:
https://doaj.org/article/987c96a1f34042ce87929a5b50ae5770
Autor:
Vanessa Barbaro, Annamaria Assunta Nasti, Paolo Raffa, Angelo Migliorati, Patrizia Nespeca, Stefano Ferrari, Elisa Palumbo, Marina Bertolin, Claudia Breda, Francesco Miceli, Antonella Russo, Luciana Caenazzo, Diego Ponzin, Giorgio Palù, Cristina Parolin, Enzo Di Iorio
Publikováno v:
Stem Cells Translational Medicine, Vol 5, Iss 8, Pp 1098-1105 (2016)
Ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome is a rare autosomal dominant disease caused by mutations in the p63 gene. To date, approximately 40 different p63 mutations have been identified, all heterozygous. No definitive treatments
Externí odkaz:
https://doaj.org/article/dd3ca4149b594fb0b8e26b239e3a0e64
Publikováno v:
Vision Pan-America, Vol 16, Iss 4, Pp 118-120 (2017)
The purpose of this study was to report the ocular findings in an unusual case of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and review the etiology and clinical presentation of similar cases in the literature. Thys study is an observa
Externí odkaz:
https://doaj.org/article/a9c2d219d21d412987c707ca5103b8a2
Publikováno v:
Molecular Medicine Reports
In the present study whole-exome sequencing using the Complete Genomics platform was employed to scan a proband from a split‑hand/split‑foot malformation (SHFM) 4 family. The missense mutation c.728G>A (p.Arg243Gln) in the TP63 gene was revealed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d601ec77265bbb06ea10713420c42e9c
http://europepmc.org/articles/PMC5983954
http://europepmc.org/articles/PMC5983954
Autor:
Diego Ponzin, Vanessa Barbaro, Vincenzo Lariccia, Claudia Del Vecchio, Stefano Ferrari, Paolo Raffa, Angelo Migliorati, Enzo Di Iorio, Colin E. Willoughby, Patrizia Nespeca, Annamaria Assunta Nasti, Mariangela Biasolo, Cristina Parolin, Giorgio Palù
Publikováno v:
Stem Cells. 34:1588-1600
Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare autosomal dominant disease caused by heterozygous mutations in the p63 gene and characterized by limb defects, orofacial clefting, ectodermal dysplasia, and ocular defects. Patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f04ee8ce92c5260dbccf6d993fe960
https://doi.org/10.1002/stem.2343
https://doi.org/10.1002/stem.2343
Akademický článek
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Akademický článek
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Autor:
Cornelia van Straten, Kurt-W. Bütow
Publikováno v:
Annals of Maxillofacial Surgery
Introduction: An analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), ankyloblepharon-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and Rapp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7783f468b000e6bb65612ac84bc4b7ef
http://europepmc.org/articles/PMC3645613
http://europepmc.org/articles/PMC3645613
Publikováno v:
Revista Mexicana de Oftalmología, Vol 91, Iss 2, Pp 91-94 (2017)
ResumenSe presenta el caso de un paciente de 10 años con diagnóstico de ectrodactilia-displasia ectodérmica-hendidura, con cuadro de oclusión congénita de vías lagrimales, complicado con blefaroconjuntivitis y queratitis bacteriana, a la explor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c5ca5d315bf28b7ac2cddaa64657974